A rare osteoclast-poor form of osteopetrosis, called dysosteosclerosis (DOS), accompanied by red violet macular atrophy, platyspondyly and metaphyseal osteosclerosis, is caused by mutations of the SLC29A3 (solute carrier family 29 member 3) gene encoding for a lysosomal nucleoside transporter highly expressed in myeloid cells (21, 55). This evidence concerns the gene SLC29A3 and Platyspondyly.